As with many rare conditions the medical name can be long and difficult to pronounce, Osteogenesis Imperfecta! It is more commonly known as Brittle Bone Disease; but while fragile bones are a significant part of the condition, there are many other aspects of the disease that are sometimes overlooked. 

Osteogenesis Imperfecta is, in fact, a heritable disorder of connective tissue due to abnormalities in the collagen gene (COL1A1) which can also affect other parts of the body.

These include:

  • Hypermobility and joint issues.
  • Weakness in tendons and muscles.
  • Flat feet
  • Dislocations
  • Kidney Stones
  • Gastrointestinal problems
  • Hearing loss
  • Heart problems

As each person is unique, no one person with Osteogenesis Imperfecta has exactly the same experiences or symptoms and often it varies over a person’s lifetime. There is a wide spectrum of people with Osteogenesis Imperfecta ranging from mild to severe.

It is very important that we all raise awareness of Osteogenesis Imperfecta and its impact on every level so as to enable everybody to obtain the appropriate support

For #HMSAware in 2017, Julie Anne shared her experience of living with Osteogenesis imperfecta, from diagnosis in childhood through to middle age (and counting!). 

I was diagnosed with Osteogenesis Imperfecta at the age of two after several broken bones. Apparently, the doctor who diagnosed me took one look at my eyes and saw that instead of white sclera mine were blue; a tell-tale sign of the condition. My parents were told that my bones would break easily, and that hopefully, this would lessen as I got older. I endured several breaks over the next few years and when doctors suggested that a warmer & sunnier climate may be beneficial, we emigrated from the UK to South Africa. I was about nine years old. Not many doctors in South Africa knew about OI, and so my orthopaedic surgeon learnt about it as we went along with various issues.

 

Only in my teenage years and my 20's did it really come to light that OI was also considered a heritable disorder of connective tissue and it wasn’t just bones that were affected. That explained several things; the blue sclera and easy bruising, flat feet, and poor muscle tone to name just a few. Many people with OI suffer with heart problems and fatigue . My doctors had never mentioned any of this to me so it was a case of learning along the way.

 

In 2002, I had to have my two top wisdom teeth removed and had it done under general anaesthesia in a hospital, where a maxillofacial surgeon performed the extraction. My greatest fear was the possibility of my surrounding teeth been damaged during the operation. Fortunately, I was in the hands of a very good surgeon and he had done his research!  Interestingly, he informed me afterwards that my tissue was different to someone without OI and that I also bled more than the average person.

As I have now entered middle age, more challenges appear to await me. Self-management is always key to living well and thankfully, drugs are available now that weren't many years ago but I feel that the future is still a scary prospect. Exercise is really important for someone with my condition but at the same time I have a real fear of injury because of the pain but limitations fractures can cause me. Swimming is one of the safest exercises for people with OI but unfortunately it has no weight bearing benefits, and we know that for people with OI (or for anyone really) there is a need to weight bear, as much as possible, as it helps to strengthen bones.  Having a milder form of OI I have been fortunate enough to be able to walk but there are people with more severe types, who are heavily restricted and wheelchair bound.

 

Whilst I am glad that I have been able to mobilise independently, life has not been without challenges! Most people do not realise that I have OI, even though I am much shorter than most people and have a limp due to a shorter somewhat disfigured right leg.  At school teachers, and fellow students, couldn't really grasp my situation as they could see I could walk. This lack of understanding followed me into the working world.

 

Many medical practitioners in South Africa and across the world do not understand much about OI. They are therefore, unable to teach us about the conditions and how to best manage them.  The public health care in South Africa is very bad, so people need to try and go privately to see professionals. This is very expensive but I am lucky that I have a specialist who at least understands osteoporosis in elderly care, so he has some advice and options he can give me and works in partnership to assist me in managing my condition.

 

People with OI have to educate themselves, which I think is something that anyone with a rare disease has to endure.  This is what I think those of us with a rare disorder really needs, the both support and understanding. Having OI can affect one both physically and emotionally. Having support from family and friends can make all the difference in our lives. In today's era of social media, and much wider access to organisations via the internet, information is easier to get and it helps to interact with other people sharing similar problems, and most of all to develop support networks, so you feel less isolated.

Julie Anne Beavis

Gauteng, South Africa